Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02754:Ghsr'

306328

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ghsr

Ensembl Gene

ENSMUSG00000051136

Gene Name

growth hormone secretagogue receptor

Synonyms

C530020I22Rik, Ghsr1a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02754

Quality Score

Status

Chromosome

Chromosomal Location

27425500-27432159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 27426645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 234 (I234L)

Ref Sequence

ENSEMBL: ENSMUSP00000061153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057186]

AlphaFold

Q99P50

Predicted Effect

probably damaging
Transcript: ENSMUST00000057186
AA Change: I234L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: I234L

Domain	Start	End	E-Value	Type
low complexity region	33	43	N/A	INTRINSIC
Pfam:7TM_GPCR_Srw	47	339	5.8e-12	PFAM
Pfam:7TM_GPCR_Srsx	53	336	9.4e-8	PFAM
Pfam:7tm_1	59	321	7.9e-51	PFAM
Pfam:7TM_GPCR_Srv	61	338	4.8e-9	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AW551984	T	A	9: 39,507,922 (GRCm39)	R405*	probably null	Het
AW551984	C	T	9: 39,504,624 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,197,481 (GRCm39)	E968G	possibly damaging	Het
Ccdc68	T	C	18: 70,076,935 (GRCm39)		probably null	Het
Ccdc87	T	A	19: 4,889,889 (GRCm39)	L127H	probably damaging	Het
Cdk5r1	G	T	11: 80,368,569 (GRCm39)	A79S	probably benign	Het
Cdyl	A	T	13: 35,867,725 (GRCm39)		probably benign	Het
Cfdp1	A	G	8: 112,580,766 (GRCm39)		probably benign	Het
Chi3l1	A	T	1: 134,111,339 (GRCm39)	I62F	probably damaging	Het
Cnot1	A	T	8: 96,481,706 (GRCm39)	I789K	probably benign	Het
Cobl	T	C	11: 12,204,371 (GRCm39)	K695R	probably damaging	Het
Cobl	C	A	11: 12,204,370 (GRCm39)	K752N	probably damaging	Het
Cstdc5	G	A	16: 36,179,899 (GRCm39)	P73S	probably benign	Het
Dcaf6	T	C	1: 165,165,915 (GRCm39)		probably null	Het
Ece2	A	T	16: 20,451,398 (GRCm39)	I197F	probably damaging	Het
Eif2b5	T	G	16: 20,321,536 (GRCm39)	V363G	possibly damaging	Het
Gca	T	C	2: 62,502,702 (GRCm39)	S37P	probably benign	Het
Grin3b	A	T	10: 79,808,723 (GRCm39)	I158F	possibly damaging	Het
Gtf2h2	A	T	13: 100,617,747 (GRCm39)	D178E	probably damaging	Het
Herc2	A	G	7: 55,747,246 (GRCm39)	E461G	probably damaging	Het
Hsph1	T	A	5: 149,547,057 (GRCm39)	N531I	possibly damaging	Het
Insl6	G	T	19: 29,302,529 (GRCm39)	Q63K	probably benign	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lvrn	C	T	18: 47,023,971 (GRCm39)	Q773*	probably null	Het
Mterf1b	T	C	5: 4,246,478 (GRCm39)	F40L	possibly damaging	Het
Nrg1	G	A	8: 32,316,391 (GRCm39)		probably benign	Het
Or10ak13	T	A	4: 118,639,117 (GRCm39)	I222F	possibly damaging	Het
Or1n1	T	A	2: 36,750,232 (GRCm39)	I43F	probably damaging	Het
Or5p79	T	C	7: 108,221,880 (GRCm39)	I287T	possibly damaging	Het
Pax5	C	T	4: 44,570,059 (GRCm39)	V319I	probably damaging	Het
Plcz1	T	A	6: 139,956,307 (GRCm39)	T321S	probably benign	Het
Plekha6	A	G	1: 133,212,676 (GRCm39)	E660G	probably damaging	Het
Prep	T	C	10: 44,943,428 (GRCm39)	M1T	probably null	Het
Prickle1	C	T	15: 93,399,034 (GRCm39)	S598N	possibly damaging	Het
Prtn3	A	G	10: 79,716,932 (GRCm39)	Q99R	probably benign	Het
Rad50	A	G	11: 53,592,883 (GRCm39)	V89A	probably damaging	Het
Ret	T	C	6: 118,153,213 (GRCm39)	Y485C	probably benign	Het
Setd2	T	A	9: 110,379,124 (GRCm39)	F980I	possibly damaging	Het
Slc44a4	A	G	17: 35,140,279 (GRCm39)	Y228C	probably damaging	Het
Tex10	C	T	4: 48,435,028 (GRCm39)	C779Y	possibly damaging	Het
Tfdp2	T	G	9: 96,199,592 (GRCm39)	S285A	probably benign	Het
Thsd4	T	A	9: 59,896,380 (GRCm39)		probably benign	Het
Tmem106a	A	C	11: 101,481,219 (GRCm39)	E242D	probably benign	Het
Ttc22	T	C	4: 106,495,669 (GRCm39)	V341A	probably benign	Het
Ubr4	T	A	4: 139,138,095 (GRCm39)	S1151T	probably damaging	Het
Ubr4	G	A	4: 139,120,470 (GRCm39)		probably null	Het
Vmn1r206	A	T	13: 22,805,060 (GRCm39)	L49*	probably null	Het
Vmn1r233	A	T	17: 21,214,887 (GRCm39)	F21Y	probably benign	Het
Vmn1r233	A	T	17: 21,214,886 (GRCm39)	F21L	probably benign	Het
Vmn2r15	A	T	5: 109,441,134 (GRCm39)	C241*	probably null	Het
Zmym6	T	A	4: 127,003,764 (GRCm39)		probably benign	Het

Other mutations in Ghsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ghsr	APN	3	27,429,022 (GRCm39)	missense	possibly damaging	0.92
IGL00435:Ghsr	APN	3	27,426,532 (GRCm39)	missense	possibly damaging	0.91
IGL01376:Ghsr	APN	3	27,425,977 (GRCm39)	missense	probably benign
IGL02444:Ghsr	APN	3	27,426,189 (GRCm39)	missense	probably benign	0.17
IGL02650:Ghsr	APN	3	27,429,004 (GRCm39)	missense	probably benign	0.29
R0571:Ghsr	UTSW	3	27,426,165 (GRCm39)	missense	probably damaging	1.00
R0825:Ghsr	UTSW	3	27,428,776 (GRCm39)	missense	probably damaging	0.99
R1036:Ghsr	UTSW	3	27,428,869 (GRCm39)	missense	probably damaging	0.98
R1462:Ghsr	UTSW	3	27,426,025 (GRCm39)	missense	probably benign	0.01
R1462:Ghsr	UTSW	3	27,426,025 (GRCm39)	missense	probably benign	0.01
R1529:Ghsr	UTSW	3	27,426,631 (GRCm39)	missense	probably damaging	1.00
R1598:Ghsr	UTSW	3	27,426,426 (GRCm39)	missense	probably benign	0.27
R4846:Ghsr	UTSW	3	27,425,986 (GRCm39)	missense	probably benign
R4951:Ghsr	UTSW	3	27,426,510 (GRCm39)	missense	possibly damaging	0.83
R4993:Ghsr	UTSW	3	27,426,403 (GRCm39)	missense	possibly damaging	0.87
R5055:Ghsr	UTSW	3	27,426,421 (GRCm39)	missense	probably benign	0.28
R6843:Ghsr	UTSW	3	27,426,676 (GRCm39)	missense	probably benign
R6936:Ghsr	UTSW	3	27,426,474 (GRCm39)	missense	probably benign	0.02
R7068:Ghsr	UTSW	3	27,425,986 (GRCm39)	missense	probably benign	0.01
R7318:Ghsr	UTSW	3	27,426,616 (GRCm39)	missense	possibly damaging	0.91
R7510:Ghsr	UTSW	3	27,426,523 (GRCm39)	missense	probably benign	0.05
R7889:Ghsr	UTSW	3	27,426,315 (GRCm39)	missense	probably benign	0.00
R9514:Ghsr	UTSW	3	27,426,630 (GRCm39)	missense	possibly damaging	0.77
R9571:Ghsr	UTSW	3	27,426,664 (GRCm39)	missense	probably benign	0.00
R9741:Ghsr	UTSW	3	27,428,898 (GRCm39)	missense	possibly damaging	0.85

Posted On

2015-04-16